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TÍTULO: Multigenic truncation of the semaphorin-plexin pathway by a germline chromothriptic rearrangement associated with Moebius syndrome  Full Text
AUTORES: Lusine Nazaryan Petersen; Ines R Oliveira; Mana M Mehrjouy; Juan M M Mendez; Mads Bak; Merete Bugge; Vera M Kalscheuer; Iben Bache; Dustin C Hancks; Niels Tommerup;
PUBLICAÇÃO: 2019, FONTE: HUMAN MUTATION, VOLUME: 40, NÚMERO: 8
INDEXADO EM: Scopus WOS
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TÍTULO: A 3.2Mb deletion on 18q12 in a patient with childhood autism and high-grade myopia  Full Text
AUTORES: Mette Gilling; Marlene Briciet Lauritsen; Morten Moller; Karen Friis Henriksen; Astrid Vicente ; Guiomar Oliveira ; Christina Cintin; Hans Eiberg; Paal Skyt Andersen; Ole Mors; Thomas Rosenberg; Karen Brondum Nielsen; Rodney M J Cotterill; Claes Lundsteen; Hans Hilger Ropers; Reinhard Ullmann; Iben Bache; Zeynep Tuemer; Niels Tommerup;
PUBLICAÇÃO: 2008, FONTE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 16, NÚMERO: 3
INDEXADO EM: Scopus WOS CrossRef